Updates

September 20, 2019
New Gene Editing Technique Shown to Correct COL7A1 Gene in RDEB Cells

A novel gene editing technique was able to correct mutations in COL7A1 in cells taken from people with recessive dystrophic epidermolysis bullosa (RDEB), providing a ... Read more
September 13, 2019
DAAC Dressing Closes EB Wounds Faster Than Standard Saline-Antibiotic One, Study Says

A type of wound dressing, called dialkylcarbamoylchloride (DAAC)‐coated cotton acetate, closes infected wounds related to epidermolysis bullosa (EB) faster than the standard saline dressing ... Read more
September 6, 2019
Cell Therapy for RDEB Needs Collagen VII Repair in Two Types Skin Cells to Achieve Stability, Study Finds

Cell therapy with genetically engineered skin grafts requires that collagen type VII be “corrected” in two types of skin cells — keratinocytes and fibroblasts ... Read more
September 2, 2019August 30, 2019
‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases

Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. ... Read more
August 30, 2019
First Patient Dosed in Phase 2 Trial of RGN-137 Achieves Complete Wound Healing, RegeneRx Announces

RegeneRx Biopharmaceuticals announced the first patient enrolled in a Phase 2 clinical trial of RGN-137, the company’s investigational topical gel for treating epidermolysis bullosa (EB), ... Read more

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News

At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing
August 29, 2019August 28, 2019
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is ...
News

Injecting Engineered Cells May Prevent Blistering in RDEB, Study Indicates
August 23, 2019
Injection of mesenchymal stromal cells (MSCs) — cells that can be isolated from several ...
News

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases
August 19, 2019
Imagine living your whole life with a painful disease so rare that only 25 ...
News

Amryt Releases Design of Pivotal Trial Evaluating Oleogel-S10 for EB Patients of All Ages
August 16, 2019
Amryt Pharma is conducting a Phase 3 clinical trial evaluating the effectiveness and long-term ...
News

Aegle Wins Debra’s Partners in Progress Award, Plans to Soon Open Clinical Trial in DEB Patients
August 9, 2019September 10, 2019
With its lead therapy candidate AGLE-103 set to begin clinical testing in the coming months, Aegle ...
News

Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card
August 2, 2019August 1, 2019
Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of ...

Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate
August 1, 2019
Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, ...
Gene-modified Skin Cells Show Promise for RDEB in Phase 1 Trial
July 26, 2019
An experimental cell therapy where a patient’s own skin cells (fibroblasts) are engineered in ...
Transplants Using Patients’ Own Skin May Be Safe, Effective Treatment for RDEB, Trial Suggests
July 19, 2019
European Initiative Targets Diagnosis, Treatment of Rare Diseases
July 18, 2019
FDA Releases Guidelines to Push Industry Development of New Therapies
July 12, 2019July 17, 2019
Macedonian Gaucher Activist Publicizes Plight of Rare Disease Patients
July 9, 2019

World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients
July 5, 2019July 4, 2019
It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in ...
KB103 Continues to Show Promise in Treating DEB, Receives RMAT Designation from FDA
June 28, 2019June 28, 2019
NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala
June 25, 2019
Vital Signs Monitor May Lower Risk of Skin Injury in NICU Babies and EB Patients
June 21, 2019

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients
June 20, 2019
Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to ...
‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy
June 19, 2019June 17, 2019
EB-101, Potential Cell Therapy for RDEB, Seen to Lead to Sustained Wound Healing in Trial
June 14, 2019June 18, 2019

News

RDEB Gene Therapy Candidate FCX-007 Given FDA Regenerative Medicine Advanced Therapy Status
June 7, 2019
Fibrocell Science’s investigational gene therapy FCX-007 for the treatment of recessive dystrophic epidermolysis bullosa ...
News

First Patient Dosed in Phase 2 Trial Testing RGN-137 for Epidermolysis Bulllosa
May 31, 2019May 31, 2019
The first patient with epidermolysis bullosa has received treatment with RegeneRx Biopharmaceuticals‘ investigational therapy RGN-137 ...
News

Agency Unveils RaDaR to Help Patient Groups Develop Rare Disease Registries
May 27, 2019May 24, 2019
RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims ...
News

Gene Therapy Using CRISPR-Cas9 Shows Promise as Safer, More Efficient Method to Treat RDEB, Preliminary Study Shows
May 24, 2019
Gene therapy using CRISPR-Cas9 enabled precise correction in the lab of defective skin cells ...
News

ProQR Creates New Company, Wings Therapeutics, to Assume Development of QR-313 for Dystrophic EB
May 17, 2019
A new company called Wings Therapeutics has been tasked with continuing the development of ...
News

Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns
May 15, 2019
With 250 rare diseases newly identified every year, scientists can barely keep up — ...

January 23, 2018January 23, 2018

Factors Beyond COL7A1 Mutations May Contribute to Dystrophic EB Forms, Study Suggests

News

A study from Spain has raised the possibility that the development of dystrophic epidermolysis bullosa (DEB) could be attributable to additional factors besides mutations in the COL7A1 gene. Researchers reached this conclusion after studying three unrelated patients with different forms of ... Read more

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